Genetics of gallstone disease revisited: updated inventory of human lithogenic genes
Purpose of review Gallstone disease is one of the most frequent diseases in gastroenterology and treatment by endoscopy and surgery causes high costs in our health-care systems. Family and twin studies have demonstrated that gallstones are, in part, genetically determined. Here we review all recent genome-wide and phenome-wide studies of gallstones in humans and provide an updated ‘inventory of human lithogenic genes.’ Recent findings The largest population attributable risk is conferred by the common variant (p.D19H) of the hepatic and intestinal cholesterol transporter ABCG5/G8. A second ABC transporter, the hepatic phosphatidylcholine translocase ABCB4, increases the risk for gallstone disease, gallbladder cancer and chronic liver diseases in general, whereas the common PNPLA3 risk variant p.I148M decreases gallstone risk. Summary Better understanding of the pathomechanisms of gallstone disease might help to overcome the current invasive treatment of this exceptionally prevalent and economically significant digestive disease by personalized prevention in at-risk patients.
We read with interest the article by Repici et al1 on a novel submucosal injection solution, SIC-8000, in EMR of large colorectal lesions. Because SIC-8000 provides a long-lasting mucosal lift to facilitate EMR, the authors compared SIC-8000 with saline solution in EMR of large colorectal lesions. Although they concluded that SIC-8000 appeared to be more effective than saline solution in EMR, we believe that they should compare SIC-8000 with other solutions used in endoscopic submucosal dissection (ESD), not in EMR.
Normally, each month when new issues of journals are opened or scanned online, there can be an element of excitement together with an element of trepidation. The latter can stem from complicated tables concerning obscure genes that govern inflammatory pathways that interact with bacteria, tedious immunologic data, and metabolic novelties that boggle the mind. However, in this issue of Gastrointestinal Endoscopy, Overwater et al1 have provided us with a breath of fresh air.
Happy Fat Tuesday! On this day, celebrated in many countries with lavish parties and high-fat foods, we’re recognizing the importance of fats in the body. You’ve probably heard about different types of fat, such as saturated, trans, monounsaturated, omega-3, and omega-6. But fats aren’t just ingredients in food. Along with similar molecules, they fall under the broad term lipids and serve critical roles in the body. Lipids protect your vital organs. They help cells communicate. They launch chemical reactions needed for growth, immune function, and reproduction. They serve as the building blocks of your ...